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P3H1

GENERAL INFORMATION

Gene name

 P3H1

Gene description

 Prolyl 3-hydroxylase 1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (placenta)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA012113 , HPA016980
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 P3H1 (HGNC Symbol)

Synonyms

 GROS1, LEPRE1, LEPRECAN, MGC117314

Description

 Prolyl 3-hydroxylase 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]

Chromosome

 1

Cytoband

 p34.2

Chromosome location (bp)

 42746335 - 42767084

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000117385 (version 83.38)

Entrez gene

 64175

UniProt

 Q32P28 (UniProt - Evidence at protein level)

neXtProt

 NX_Q32P28

Antibodypedia

 P3H1 antibodies

PROTEIN BROWSER
P3H1-001
P3H1-002
P3H1-012
P3H1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
P3H1-001
ENSP00000296388
ENST00000296388
Q32P28 [Direct mapping]
Prolyl 3-hydroxylase 1
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005506 [iron ion binding]
GO:0005518 [collagen binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0006457 [protein folding]
GO:0008285 [negative regulation of cell proliferation]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0018126 [protein hydroxylation]
GO:0019511 [peptidyl-proline hydroxylation]
GO:0019797 [procollagen-proline 3-dioxygenase activity]
GO:0030198 [extracellular matrix organization]
GO:0031418 [L-ascorbic acid binding]
GO:0032403 [protein complex binding]
GO:0032963 [collagen metabolic process]
GO:0032991 [macromolecular complex]
GO:0050708 [regulation of protein secretion]
GO:0050821 [protein stabilization]
GO:0055114 [oxidation-reduction process]
GO:0060348 [bone development]
GO:0061077 [chaperone-mediated protein folding]
GO:0070062 [extracellular exosome]
GO:1901874 [negative regulation of post-translational protein modification]
Show all
 736 aa
83.4 kDa 		Yes 0
P3H1-002
ENSP00000236040
ENST00000236040
Q32P28 [Direct mapping]
Prolyl 3-hydroxylase 1
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005506 [iron ion binding]
GO:0005518 [collagen binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0006457 [protein folding]
GO:0008285 [negative regulation of cell proliferation]
GO:0016020 [membrane]
GO:0016049 [cell growth]
GO:0016491 [oxidoreductase activity]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0018126 [protein hydroxylation]
GO:0019511 [peptidyl-proline hydroxylation]
GO:0019797 [procollagen-proline 3-dioxygenase activity]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030278 [regulation of ossification]
GO:0031418 [L-ascorbic acid binding]
GO:0032403 [protein complex binding]
GO:0032963 [collagen metabolic process]
GO:0032991 [macromolecular complex]
GO:0050708 [regulation of protein secretion]
GO:0050821 [protein stabilization]
GO:0055114 [oxidation-reduction process]
GO:0060348 [bone development]
GO:0061077 [chaperone-mediated protein folding]
GO:0070062 [extracellular exosome]
GO:1901874 [negative regulation of post-translational protein modification]
Show all
 804 aa
90.6 kDa 		Yes 0
P3H1-012
ENSP00000361604
ENST00000372526
E2QRI1 [Direct mapping]
Prolyl 3-hydroxylase 1
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 207 aa
23.1 kDa 		Yes 0
P3H1-201
ENSP00000380245
ENST00000397054
Q32P28 [Direct mapping]
Prolyl 3-hydroxylase 1
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005506 [iron ion binding]
GO:0005518 [collagen binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0006457 [protein folding]
GO:0008285 [negative regulation of cell proliferation]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0018126 [protein hydroxylation]
GO:0019511 [peptidyl-proline hydroxylation]
GO:0019797 [procollagen-proline 3-dioxygenase activity]
GO:0030198 [extracellular matrix organization]
GO:0031418 [L-ascorbic acid binding]
GO:0032403 [protein complex binding]
GO:0032963 [collagen metabolic process]
GO:0032991 [macromolecular complex]
GO:0050708 [regulation of protein secretion]
GO:0050821 [protein stabilization]
GO:0055114 [oxidation-reduction process]
GO:0060348 [bone development]
GO:0061077 [chaperone-mediated protein folding]
GO:0070062 [extracellular exosome]
GO:1901874 [negative regulation of post-translational protein modification]
Show all
 697 aa
78.9 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.